Genetic Test Panels

Next Generation Sequencing (NGS)

Whole Exome Sequencing (WES)
Whole Exome, CNV Calling ,Mitochondrial Genome
Coverage inclusive of >19,000 Genes, 100X Mean Depth, >95% Coverge at 20X
Cusomised Gene Curation: Phenotype Specific and Regularaly updated Lists
Enhanced Variant Calling : Extensively Validated Customised Pipeline
Expert Variant Annotation including Gene-Disease association & Variant-Disease association
Best-in-Class Reports peer reviewed by Bioinfomatician. Scientists.Genetic Counsellor and Clinical Geneticist
Only Genes with a moderate gene-disease sensitivity are included in Panels
Available as Single/Duo/Trio Analysis
Pre-natal NGS : Whole exome sequencing with CNV calling on amniotic fluid / chorionic villus sampling (MCC is Mandatory)

Hereditary Cardiac Conditions including channelopathies , cardiomyopathies and familial hypercholesterolemia
Hereditary Skin Conditions including Tuberous Sclerosis, Xeroderma, Noonan Syndrome, Connective tissue and related disorders and more ...
Endocrinology conditions including MODY , Male Infertility,Hypoglycemia, Monogenic Obesity,Congenital Hypothyroidism, Hypopituitarism ,Adrenal Hypoplasia Congenita (NR0B1) and more..
ENT Diseases including Syndromic & Non Syndromic Deafness, Usher Syndrome,Waardenburg Syndrome
Stomach and Liver Conditions such as Crigler-Najjar Syndrome(UGT1A1) , Ciliopathies , Glycogen Storage Disease, HNPCC (Colorectal Cancer) and more ...
Metabolic conditions including Alkaptonuria (HGD) Alpha-1 Antitrypsin Deficiency (SERPINA1) Biotinidase Deficiency (BTD)
Neurological conditions such as Epilepsy, neuromuscular , Movement Disorders, Neurocutaneous Disorders , Neurodegenerative Disorders, Intellectual Disability and Autism

MLPA : Duchene Muscular Dystrophy ,Marfan Syndrome , ,Spinal Muscular Atrophy, Atypical Hemolytic Uremic Syndrome, Marfan Syndrome , Charcot-Marie-Tooth (CMT) Hereditary Neuropathy, Hereditary Breast and Ovarian Cancer (HBOC)
TP-PCR (Triplet repeat Primed Polymerase Chain Reaction) :Fragile X syndrome , Ataxia Spinocerebellar/SCA - Triplet Repeat (SCA2/12) , Ataxia Spinocerebellar /SCA-Triplet Repeat (SCA 1, 2, 3, 6, 7, 12, 10 ) , Huntington disease.
Sanger Sequencing : Beta Thalessemia (Common Mutations), Beta Globin (HBB) Gene Sequencing , Beta Globin Gene Trio / Beta Thalessemia Trio , Sickle Cell Gene Sequencing
Sanger Validation (Sanger testing of mutations detected by NGS )
Sanger Familial variant testing (Targeted testing of at risk members)
Prenatal Sanger : Testing of chorionic villous tissue or amniotic fluid for Known mutations.

Karyotyping technique can be used to detect chromosomal conditions such as Down syndrome, Klinefelter syndrome etc
Fluorescence In Situ Hybridisation(FISH) : helps in identifying chromosomal abnormality present in cancer and also other chromosomal disorders. It can identify genetic alterations which are too small to be seen on Karyotyping.
Chromosomal Microarray (CMA) : unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA).
Quantitative Fluorescent PCR or QF-PCR : used to detect aneuploidies of chromosomes 13, 18, 21, X or Y.

NUTRIGENOMICS : Diet And Nutrition Profiling on how you metabolize
WELLNESS PROFILING : Fitness/Lifestyle Profiling on your activities of daily life
PREVENTIVE GENOMICS : Know your susceptibility or risk for certain genetic condition
CARRIER SCREENING: Know your risk for being a carrier of a genetic disorder . Get your partner screened too. Know the risk of having a child with a genetic disorder.
PHARMACOGENOMICS : Choose the right drug at the right dose for your health issues. Know how your body will respond to a drug and if you are at risk of any adverse effect!

Cytogenetics : Bone Marrow Karyotyping (identifies multiple recurrent chromosomal aberrations)and FISH (Identifies translocations, deletions, inversions, trisomies or amplification in the interphase nuclei).
Molecular Hemato Oncology : OncoCEPT -Haem covers Myeloproliferative Neoplasms, Mastocytosis 3. Myeloid/lymphoid neoplasms with eosinophilia & gene rearrangement, Acute myeloid leukaemia(AML) & related precursor neoplasms

Let’s talk. Whether it’s for you, your parent, or someone you care for — we’re here to help.